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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:large intestine adenocarcinoma
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Accession:DOID:0050913 term browser browse the term
Definition:A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)
Synonyms:primary_id: RDO:9001839
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
colon adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:colon RGD PMID:17708571 RGD:2292654 NCBI chr15:4,254,470...4,281,296
Ensembl chr15:4,254,499...4,281,287
JBrowse link
G Apc APC regulator of WNT signaling pathway IMP
ISO
associated with Adenomatous Polyposis Coli;DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar Annotator: match by term: Adenocarcinoma of the colon
ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:27978560 PMID:28492532, PMID:17360473 RGD:1601201 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon IMP associated with Adenomatous Polyposis Coli RGD PMID:17360473 RGD:1601201
G Arid1a AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:colorectum (human) RGD PMID:26980037 RGD:126790569 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:frameshift mutation: ; RGD PMID:9020077 RGD:734633 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:10830715 RGD:10450245 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Ctnnb1 catenin beta 1 IAGP DNA:mutation RGD PMID:16886601 RGD:1599637 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Daxx death-domain associated protein ISO protein:decreased expression:colon: RGD PMID:16569639 RGD:9587838 NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
JBrowse link
G Fech ferrochelatase ISO mRNA:decreased expression:colon RGD PMID:28075030 RGD:14700888 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Hmgb1 high mobility group box 1 IEP RGD PMID:20616616 RGD:10402080 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Jak2 Janus kinase 2 treatment ISO Human cell in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO RGD PMID:24691442 RGD:13210775 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:24691442 RGD:13210775 NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase IEP mRNA:decreased expression:colon (rat) RGD PMID:16886601 RGD:1599637 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29535520 RGD:21409754 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Adenocarcinoma of the colon ClinVar PMID:25741868 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO mRNA:decreased expression:colon: RGD PMID:19737405 RGD:11556207 NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation RGD PMID:17575153 RGD:5685670 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 treatment ISO RGD PMID:24632606 RGD:13432053 NCBI chr 5:135,069,972...135,145,633
Ensembl chr 5:135,074,297...135,142,488
JBrowse link
G Rac1 Rac family small GTPase 1 treatment ISO mRNA:alternative form RGD PMID:10597294, PMID:19561401 RGD:13432049, RGD:13432051 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by synonym: Colonic adenocarcinoma ClinVar PMID:10362365 NCBI chr 5:134,948,511...134,978,125
Ensembl chr 5:134,948,512...134,978,125
JBrowse link
G Rnasel ribonuclease L severity ISO RGD PMID:23567782 RGD:40902808 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
JBrowse link
G Srsf4 serine and arginine rich splicing factor 4 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 5:150,032,999...150,060,769
Ensembl chr 5:150,032,999...150,060,765
JBrowse link
G Srsf5 serine and arginine rich splicing factor 5 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 6:104,611,026...104,640,033
Ensembl chr 6:104,611,026...104,615,302
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO mRNA:decreased expression:colon mucosa (human) RGD PMID:9865741 RGD:11039405 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO human cells in mouse model RGD PMID:32504672 RGD:125097526 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO RGD PMID:9019169 RGD:13432089 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vegfc vascular endothelial growth factor C IEP mRNA:increased expression:colon RGD PMID:18424890 RGD:2315488 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
JBrowse link
colon signet ring adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:colon RGD PMID:29747153 RGD:126779566 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
JBrowse link
rectum adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Rectal Adenocarcinoma ClinVar PMID:24033266 PMID:25741868 PMID:26530882 PMID:28195569 PMID:28492532 PMID:30111351 PMID:30833958 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of cellular proliferation 6936
      cancer 4887
        cell type cancer 3390
          carcinoma 2909
            adenocarcinoma 1467
              large intestine adenocarcinoma 31
                anal canal adenocarcinoma + 0
                anus adenocarcinoma + 0
                cecum adenocarcinoma 0
                colon adenocarcinoma + 31
                rectum adenocarcinoma + 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of cellular proliferation 6936
      Neoplasms by Site 6331
        Digestive System Neoplasms 3103
          Gastrointestinal Neoplasms 2976
            gastrointestinal system cancer 2510
              intestinal cancer 741
                large intestine cancer 738
                  large intestine adenocarcinoma 31
                    anal canal adenocarcinoma + 0
                    anus adenocarcinoma + 0
                    cecum adenocarcinoma 0
                    colon adenocarcinoma + 31
                    rectum adenocarcinoma + 1
paths to the root